Canonical Allele Identifier: CA1657315323
Gene: RSPH4A HGNC NCBI

Linked Data

dbSNP Id: rs1775532923

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.116617544_116617546del , CM000668.2:g.116617544_116617546del GRCh38
NC_000006.11:g.116938707_116938709del , CM000668.1:g.116938707_116938709del GRCh37
NC_000006.10:g.117045400_117045402del NCBI36
NG_012934.1:g.6066_6068del

Transcript Alleles

HGVS Amino-acid Change
ENST00000229554.10:c.686+235_686+237del MANE Select ENSP00000229554.5:n.686+235_686+237del
ENST00000229554.9:c.686+235_686+237del ENSP00000229554.5:n.686+235_686+237del
ENST00000368580.4:c.686+235_686+237del ENSP00000357569.4:n.686+235_686+237del
ENST00000368581.8:c.686+235_686+237del ENSP00000357570.4:n.686+235_686+237del
NM_001010892.2:c.686+235_686+237del NP_001010892.1:n.686+235_686+237del
NM_001161664.1:c.686+235_686+237del NP_001155136.1:n.686+235_686+237del
XM_006715469.2:c.686+235_686+237del XP_006715532.1:n.686+235_686+237del
XM_011535791.1:c.686+235_686+237del XP_011534093.1:n.686+235_686+237del
XM_011535792.1:c.686+235_686+237del XP_011534094.1:n.686+235_686+237del
XR_942416.1:n.3337+235_3337+237del
XM_017010826.1:c.686+235_686+237del XP_016866315.1:n.686+235_686+237del
NM_001010892.3:c.686+235_686+237del MANE Select NP_001010892.1:n.686+235_686+237del
NM_001161664.2:c.686+235_686+237del NP_001155136.1:n.686+235_686+237del